This section provides easy-to-understand answers to the questions we hear most often from patients and families. Just click on the question to view the answer. Don't see the answer to your question here? Send your question to our patient educator now.
Blood is made of blood cells floating in plasma. The plasma is mostly made of water with chemicals in it. These chemicals include proteins, hormones, minerals and vitamins.
There are three basic types of blood cells. These include:
The process of making blood cells is called hematopoiesis. Blood cells are made in the bone marrow. That's a spongy tissue located inside some bones. It contains young parent cells called stem cells. These blood-forming stem cells can grow into all 3 types of blood cells – red cells, white cells and platelets. These blood-forming stem cells make copies of themselves, and they also produce mature blood cells. When blood cells are fully mature and functional, they leave the bone marrow and enter the blood. Healthy people have enough stem cells to keep making all the blood cells they need every day.
When the bone marrow fails to keep up with the body's needs and doesn't produce enough red cells, white cells or platelets, or when those blood cells that are produced are damaged or defective, you have bone marrow failure. Aplastic anemia, myelodysplastic syndromes (MDS), and paroxysmal nocturnal hemoglobinuria (PNH) are bone marrow failure diseases.
Doctors use an important blood test called a complete blood count, or CBC for short, to measure the number of each blood cell in your blood sample. If the CBC shows a low number of red blood cells, white blood cells, or platelets, your doctor may look at the cells under a microscope. This is called a blood smear, and it can show if any blood cells are abnormal.
Low blood counts can have many causes, including vitamin deficiencies, bleeding, and rare bone marrow failure diseases like aplastic anemia, MDS and PNH. If your blood tests are abnormal, your doctor may do other blood tests or take a sample of your bone marrow to find out why.
The symptoms of bone marrow failure diseases like aplastic anemia, MDS and PNH are caused by low blood counts. The specific symptoms depend on which type of blood cell is affected. Read the section below to see the symptoms for each type of cell.
You may have many of these symptoms or just one or two of them. And you may get a new symptom at any point in the course of your illness.
Low Red Blood Cell Count
A low red blood cell count is called anemia. If you have a low red blood cell count, you may:
Low White Blood Cell Count
A low white blood cell count is called neutropenia. If you have a low white blood cell count, you may:
Low Platelet Count
A low platelet count is called thrombocytopenia. If you have a low platelet count, you may:
One important test your doctor will ask you to get is a complete blood count, or CBC for short. The CBC measures the number of each blood cell type in your blood sample. Below are the types of information the CBC measures.
Adult Normal Range*
Red blood cell count (varies with how high up you are in the mountains)
Men 4.7 to 6.1 million cells per microliter (cells/mcL)
White blood cell count
4,500 to 10,000 (4.5 to 10) thousand cells/mcL
Male 13.8 to 17.2 grams/dL
Male 40.7% - 50.3%
150 to 450 thousand/mcL
MCV (Mean corpuscular volume)
80 to 100 femtoliter
*Normal blood values involve a range rather than a single volume.
Aplastic anemia happens when your bone marrow stops making enough blood-forming stem cells. Most experts believe aplastic anemia occurs because your immune system attacks and kills your stem cells in your bone marrow. This causes you to have low blood counts for all three types of blood cells.
Low blood counts result in symptoms such as fatigue, tiredness, bleeding, bruising and a higher risk of infection. The disease can be classified as moderate (MAA), severe (SAA) or very severe (VAA) depending on how low your blood counts are.
MDS (myelodysplastic syndromes) is a group of disorders in which your blood-forming stem cells are defective and fail to make healthy, mature blood cells. Doctors consider MDS to be a slow growing form of blood and bone marrow cancer. With MDS, patients have low blood counts for at least one blood cell type and blood cells look abnormal under a microscope. Doctors must do a bone marrow biopsy to be certain of the diagnosis. Symptoms and the course of MDS vary for each patient depending on which blood cells are affected.
The exact number of people who have MDS is unknown, but about 10,300 new cases were reported in the U.S. in 2003. This number is the result of data collected by the Surveillance, Epidemiology, and End Results (SEER) Program of the Centers for Disease Control (CDC) and the National Cancer Institute (NCI). This program only started collecting data in 2001. The number of people may be higher than reported because some doctors are still don’t know that they need to report MDS cases to a national registry. Some doctors believe there are as many as 12,000 to 15,000 new MDS cases a year.
People diagnosed with MDS are:
Native Americans, African-Americans, Inuits, Asians, and Pacific Islanders are less likely to get MDS.
PNH (paroxysmal nocturnal hemoglobinuria) is a very rare blood disease that causes red blood cells to break apart. PNH occurs because of a genetic change to some of your blood-forming stem cells. These defective stem cells become PNH blood cells that are missing an important coating (protein) that protects them from your immune system. If you have PNH, there will be times when your immune system destroys many red blood cells very quickly, causing low red blood cell counts, as well as blood clots, muscle spasms and dark urine. This destruction of blood cells is called hemolysis.
PNH can strike people of any age, race or gender. Only about 500 people are diagnosed with PNH in the U.S. each year. PNH tends to be more common in adults in their thirties and early forties.
Graft versus host disease (GVHD) is a common complication of bone marrow/stem cell transplantation. It is caused when the donor's immune cells (the "graft"), now in the patient, react to the patient's body (the "host") as if it was foreign.
Typically, GVHD attacks the skin (causing red rash, itching, yellowing), liver (causing elevated liver test results and yellowing of the eyes), and gastrointestinal tract (causing diarrhea, nausea, cramping). GVHD can range from mild to very severe. In some cases, GVHD can be prevented or treated with immunosuppressive drug therapy. Symptoms should be reported to your doctor immediately.
AML (acute myeloid leukemia) is a cancer of the white blood cells. It is defined as having more than 20 out of 100 cells in your bone marrow being young white blood cells (blasts). About 30 out of 100 people with MDS will develop AML. Certain subtypes of MDS are more likely to become AML. If you have RAEB-1 or RAEB-2 subtype of MDS, you have a greater than 4 in 10 chance of developing AML. Both aplastic anemia and PNH patients have a small chance of developing AML later in their disease.
To make sure you get the best care and treatment, it is important to find a doctor with expertise in treating your specific disease. Specialists in bone marrow failure diseases such as aplastic anemia, MDS and PNH are hematologists (doctors specializing in blood diseases) and oncologists (doctors specializing in cancer).
While AAMDSIF does not recommend specific specialists, our knowledgeable information specialists can help you identify a few physicians with deep expertise in your disease that you can choose from. To speak with an information specialist you can call (800) 747-2820 or email email@example.com.
To find an expert, you can also call the hematology/oncology department at any teaching hospital affiliated with a local university. They can give you the name of a doctor with expertise in your disease. Doctors at teaching hospitals are typically most familiar with rare diseases. They work in research and are up-to-date on both standard therapies and new investigational treatments.
When contacting a specialist, consider asking the following questions:
Aplastic anemia treatment is designed to increase the number of healthy cells in your blood (blood count). When your blood counts go up, you are less likely to need blood from a donor (transfusion), your quality of life becomes better and your symptoms are not as bad.
Your doctor will look at several issues to find the best treatment plan for you. These include how severe your symptoms are, your age, other conditions or diseases you have, and whether someone is willing and able to donate matching bone marrow to you (preferably a family member).
There are several treatments and treatment approaches your doctor may consider. These include:
MDS treatment is designed to increase the number of healthy cells in your blood (blood count). When your blood counts go up you are less likely to need blood from a donor (transfusion), your quality of life becomes better and your symptoms are not as bad.
Your doctor will look at several issues to find the best treatment plan for you. These include your symptoms, your age, the subtype of MDS you have, your disease risk score, and other conditions or diseases you may have. He may also consider whether someone is willing and able to donate matching bone marrow to you (preferably a family member).
There are a number of general approaches used to treat MDS depending on the subtype and severity of your MDS. These may include:
PNH is considered a chronic disease meaning that it lasts a long time. The only potential cure is a bone marrow transplant (BMT). However, a BMT carries many risks and is not an option for many people. Other treatments are designed to ease symptoms and prevent problems. These may include:
How long do I have to live?
This is most people’s first question, along with “what can I expect to happen.” The doctor’s answer is called a prognosis (an educated guess about the likely course of your disease and how long you might live). Because each person is unique, and each person’s disease is different, a prognosis can be difficult to make. Also, how a disease progresses over time is unpredictable, and less is known about rare diseases than common diseases.
Whether you are an aplastic anemia, MDS or PNH patient, you need to talk to your doctor about your prognosis. This may be hard to hear, but getting a prognosis will give you key information about the treatment decisions you need to make so you can plan for the future.
Prognosis guidelines based on current data
With standard treatments, about 8 out of 10 aplastic anemia patients get better. Standard treatments include immunosuppressive therapy with antithymocyte globulin (ATG) with cyclosporine and promacta, or a bone marrow transplant. The chance for recovery depends on many factors, including how severe your case is and how you respond to treatment.
There are many different subtypes of MDS, which are identified by testing the blood and bone marrow. Your MDS subtype is a key factor in a doctor’s decision about your treatment and your prognosis (an educated guess about the likely course of your disease and how long you might live).
To figure out a prognosis for a given patient, doctors also use a prognostic scoring system. The most common one used today is the International Prognostic Scoring System-R, or IPSS-R for short. This system looks at three things:
This prognostic scoring system tells your doctor how severe your disease is and how likely it is that your MDS might become acute myeloid leukemia (AML). It also gives your doctor a general idea about how long you might live.
With current treatments, patients with lower-risk types of some MDS can live for 5 years or even longer. Patients with higher-risk MDS that becomes acute myeloid leukemia (AML) are likely to have a shorter life span. About 30 out of 100 MDS patients will develop AML. Most patients with AML need treatment soon after diagnosis because the disease often progresses fast. The initial goal is to put the patient into remission. The long-term goal is to cure the disease, although this is not always possible.
Many people with PNH live for decades. People with PNH who develop blood clots in key parts of the body or develop MDS (myelodysplastic syndromes) or AML (acute myeloid leukemia) may have a shorter life span.
Treatments available for PNH are helping people with PNH to live longer. Older research you may have come across state that PNH patients live an average of 15 to 20 years after diagnosis. More recent research shows that the PNH lifespan has climbed over the past 20 years. It’s possible that PNH patients – who rarely develop MDS or AML – will soon have a lifespan that is normal compared with people their own age.
It is always best to talk with your treating doctor about your prognosis. Remember, each patient is different.
These diseases can not be passed down through the genes from parent to child. Most cases of aplastic anemia, MDS and PNH are considered “acquired” and the cause is not typically known. In very rare cases, inherited bone marrow failure syndromes can increase the chances of getting aplastic anemia or MDS.
Even if you're happy with your doctor and healthcare team, it's OK to get a second, third, or even fourth opinion. Getting a second opinion will not offend your doctor. In fact, most healthcare providers appreciate and encourage another point of view. And it's your right.
Seeking a second opinion can help you and your family with difficult decisions about your treatment. Be sure to contact your health insurance company to determine if the healthcare provider is covered under your plan, so you will know what your out-of-pocket expenses will be. While most insurance companies cover a second opinion, it is a good idea to check with your insurance company before seeing the new healthcare provider. You should be always keep track of your out-of-pocket expenses, along with your other medical records.
You likely have many questions for your healthcare team. It is important to keep an ongoing list of your questions between appointments. Be sure to take your list with you and keep asking your questions until you get the answers you understand. Don’t be afraid to ask why your doctor is running a test, scheduling a procedure or changing a medication. Here are some sample questions to consider:
About your disease:
What treatment option do you recommend for me? Why?
While it can be difficult to imagine at first, many patients lead happy, fulfilling lives by developing strategies for successfully coping with the physical and emotional aspects of living with aplastic anemia, MDS or PNH.
Making small changes in daily activities can have a big impact on how you feel. Fatigue is a big issue for many patients, so listen to your body and rest when you need to. Talk to your doctor about ways you can decrease and manage fatigue. With a bit of patience, planning, and flexibility, many patients find ways to work, travel, exercise, and do the things they loved before diagnosis.
Visit the Caring for Yourself page for tips on managing fatigue, diet and nutrition, exercise, emotional health and more.
There is no specific diet that makes aplastic anemia, MDS, or PNH better or worse. Experts recommend you eat a well-balanced diet. Your doctor can help you find the best eating plan for you. You may also want to talk to a dietitian, nutritionist, or other member of your healthcare team. Some insurance plans cover nutrition counseling.
Make sure to check with your doctor before taking any medicines, supplements, vitamins, or herbs. They may interact with your medicines and prevent them from working or increase the risk of side effects.
If your white blood cell count is very low, your doctor may ask you to avoid certain foods that can make you sick. This is called a neutropenic diet. This diet is controversial because research has not proven its value. That’s because most infections in patients commonly come from normal bacteria that live in everyone’s mouth, skin and intestines. Nevertheless, always use common sense and avoid foods known to cause unnecessary infection:
Watchful waiting is an approach your doctor might suggest if your blood counts are not too low and your symptoms are not too bad. Your doctor will want to closely monitor your condition without giving any treatment, unless symptoms appear or change. This approach may be recommended in the early stages of aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH)
Doctors will sometimes refer to certain treatments as supportive therapy or supportive care. They help you manage the symptoms of your disease, although they do not treat the underlying cause of the disease.
In general, supportive care includes the following:
Doctors sometimes refer to particular drugs as an “active treatment” or “active drug therapy.” Active treatments treat the underlying cause of the bone marrow failure. These drugs are typically approved by the U.S. Food and Drug Administration (FDA) to treat a specific disease. It is important to note that active treatments do not cure the disease. The only potential cure for a bone marrow failure disease is a bone marrow/stem cell transplant. Unfortunately, a bone marrow transplant is not an option for many people. In addition, it carries many risks and potential long-term side effects.
It is important to weigh both the risks and the benefits of a bone marrow/stem cell transplant. A transplant doctor can answer your questions and help you decide if a transplant is an option for you.
A bone marrow transplant has serious risks. Some patients suffer from life-threatening problems as a result of their transplant. These problems can include serious infections and graft-versus-host disease (GVHD), in which the transplanted cells attack the patient's body.
For some patients, a transplant may be the best option for a longer life, as the procedure remains the only known cure for bone marrow failure diseases like aplastic anemia, MDS and PNH. You, your doctor and your family need to consider many factors when making a decision on a transplant, including your disease stage, your age, your overall health, whether a matching donor is available and other treatment options.
Scientists are always looking for newer and better ways to treat bone marrow failure diseases. A clinical trial is a type of research study that tests how a drug, medical device or treatment approach works in people. These studies often are conducted through university medical research centers around the world.
You may want to consider a clinical trial if you are not satisfied with how well standard therapies are working. You may want to explore whether you are eligible for a clinical trial to compare new treatments or new combinations of therapy against the standard approach to therapy.
Other types of research studies include:
Most patients and families want to learn about recent advances in clinical research, particularly research leading to better treatments and outcomes. We offer the following resources to help you keep up to date on current research:
Periodically ask your hematologist or oncologist, as well as other members of your health care team, about the latest clinical research findings. They will be able to tell you how new research may or may not apply to your current medical management. Your hematologist or oncologist is often the best source for advances related to your care.
For each drug, doctors have a set of criteria they use to measure a complete response, also called a full response. This criteria differs depending on the specific drug being used and the disease being treated.
For patients with bone marrow failure diseases, a complete response is typically blood counts that improve and remain at or near normal after treatment. For patients being treated for MDS, this might also include no blast cells in the blood and a normal number of blasts cells in the bone marrow.
A partial response is less than a full response and better than no response. It typically includes blood counts that are at least halfway between where they started and normal.
Ask your doctor for the criteria s/he uses to define a full and partial response.
A relapse is the return of disease characteristics and symptoms after there’s been a period of remission.
A remission is a partial or complete disappearance of the symptoms and characteristics of a disease, usually as a result of treatment. A complete remission means that there is no evidence of the disease. A partial remission means that the disease has improved, but the symptoms and characteristics of the disease remain.
Cyclosporine is a drug that lowers your body's immune response. Cyclosporine is used along with antithymocyte globulin (ATG), another immunosuppressant, for treating aplastic anemia and some other bone marrow failure diseases. If you are taking cyclosporine as part of your treatment regimen, your doctor should monitor you for side effects. Cyclosporine may cause high blood pressure, kidney damage, loss of magnesium or potassium, liver inflammation, increased hair growth and gum swelling.
These problems can usually be fixed. Your doctor might prescribe medicine to lower your blood pressure and to replace magnesium or potassium.
Cyclosporine is an immunosuppressive drug that works by preventing T-lymphocytes from becoming active. Once the T-lymphocytes are turned off, they stop attacking stem cells in the bone marrow. That means stem cells may be able to grow back. It is used along with antithymocyte globulin (ATG) as a standard treatment for aplastic anemia, and may also be used to treat MDS and PNH.
Some aplastic anemia patients may require prolonged ongoing treatment with cyclosporine to prevent or minimize the risk of disease relapse aplastic anemia coming back. Generally speaking, patients can remain on cyclosporine indefinitely, as long as there is evidence that the drug is providing some benefit and there are no unwanted or adverse side effects.
For patients who respond well to cyclosporine, alone or in combination with antithymocyte globulin (ATG), hematologists may reduce the cyclosporine dosage. Tapering, or reducing, the dosage is done slowly over a long period of time. If low blood counts and disease symptoms return, your doctor may increase or restart cyclosporine. For those who experience bad side effects such as kidney toxicity, the drug must be discontinued.
This is an individual decision and should be discussed in detail with your doctor and the medical team that would be involved in either treatment approach. They can help you understand your specific risks and potential benefits of these options.
The main goal of aplastic anemia treatment is to increase the number of healthy cells in your blood so you will feel better, no longer need transfusions and have improved quality of life.
Immunosuppressive therapy using ATG and cyclosporine works by preventing your immune system from attacking your bone marrow, letting your stem cells grow back and raising your blood count. This is a standard treatment for older patients or those without a stem cell donor.
Stem cell transplantation involves putting blood-forming stem cells from a healthy donor into your bloodstream. These cells travel to your bone marrow and start making healthy cells. This is a standard treatment for younger patients with severe aplastic anemia (SAA) and other bone marrow failure diseases if a donor is not available.
Medicare coverage is divided into four parts:
Anyone eligible for Medicare Part A (whether actually enrolled or not) or who is currently enrolled in Medicare Part B may join Medicare Part D to help pay prescription drug costs. Enrollment is voluntary except for people who also receive benefits from Medicaid (Medi-Cal in California).
If you want a copy of your medical records, you must submit a written request to the hospital or the doctor's office. The law requires that patients provide doctors with written authorization to disclose medical records or the information contained in them. Some hospitals have their own form that needs to be completed. Patients may receive copies of their medical records, however the originals must remain in the physician's or hospital's file.
We offer a number of informational and web-based services for people living outside the U.S. Our patient educator can respond to questions via email and/or phone. Educational packets can be sent by mail or regular mail. We also have more than 60 online education programs, including webcasts, webinars, interactive learning modules and interviews with experts. We are always looking for new opportunities to serve international communities through collaborations with local patient service organizations.
We provide many service and volunteer opportunities. Anyone can be a volunteer - there's no such thing as a "typical" or “one-size-fits-all” volunteer.
Volunteering opportunities vary greatly in both time commitment and activity. You can do something as simple as sending an email to your Congressman or something as elaborate as a full-scale fundraising event. Here are a few things to consider:
• Become a Peer Support Network volunteer. The Peer Support Network Connection program consists of a national network of volunteers, including patients, caregivers and family members, willing to listen and offer comfort and support to patients, their family members and caregivers. To become a volunteer you must have been diagnosed at least one year ago and complete a training.